view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPQ_chr8_96640242_97148501 | 97080907 | C | CCCTTCTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00733.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0033 others(48): Show |
51 | 126 | 0.4048 | 20 | c.125 others(41): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97147510 | G | GAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02055.hp2 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0125 others(7): Show |
10 | 126 | 0.0794 | 20 | c.*43 others(31): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4010 | chr8 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92173330 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 388 | 0.0026 | 20 | c.*11 others(33): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1186 | chr14 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92173330 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02559.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0005g0041 a0001c0001t0005g0199 a0001c0001t0006g0007 others(5): Show |
10 | 388 | 0.0258 | 20 | c.*11 others(33): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1186 | chr14 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92173335 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 388 | 0.0026 | 20 | c.*11 others(33): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1191 | chr14 | TogoVar | |||||||
CPSF4_chr7_99433943_99462373 | 99440655 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0092 | 1 | 364 | 0.0028 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0094 | 1 | 364 | 0.0028 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18982.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 a0001c0001t0003g0132 |
2 | 364 | 0.0055 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 others(9): Show |
15 | 364 | 0.0412 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02132.hp1 NA18945.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0184 a0001c0001t0003g0185 others(3): Show |
7 | 364 | 0.0192 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATTT others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 364 | 0.0028 | 20 | c.103 others(37): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69236426 | T | TATTAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 392 | 0.0026 | 20 | c.-32 others(31): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3142 | chr12 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236456 | T | TATTAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0089 a0001c0002t0001g0093 |
3 | 392 | 0.0077 | 20 | c.-31 others(31): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3112 | chr12 | TogoVar | |||||||
CPSF7_chr11_61397729_61434975 | 61434591 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0002g0005 others(4): Show |
7 | 190 | 0.0368 | 20 | c.-47 others(31): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 4617 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68803712 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02148.hp2 HG02486.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0002g0006 a0001c0001t0004g0024 a0001c0002t0002g0041 others(11): Show |
14 | 236 | 0.0593 | 20 | c.555 others(35): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 5/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838572 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02071.hp1 HG02132.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 others(8): Show |
11 | 236 | 0.0466 | 20 | c.-14 others(37): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838572 | T | TTAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 236 | 0.0042 | 20 | c.-14 others(37): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49703563 | T | TCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG03669.hp2 HG04204.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0081 a0001c0001t0002g0027 a0001c0001t0002g0028 others(2): Show |
5 | 350 | 0.0143 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703587 | C | CCTTCCCT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0193 | 1 | 350 | 0.0029 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0155 others(3): Show |
7 | 350 | 0.0200 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 350 | 0.0029 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 350 | 0.0029 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02135.hp1 HG02809.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0164 a0001c0001t0002g0050 a0001c0001t0002g0052 others(6): Show |
9 | 350 | 0.0257 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18951.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0075 others(1): Show |
4 | 350 | 0.0114 | 20 | c.694 others(37): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29003154 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 282 | 0.0036 | 20 | c.132 others(39): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123797606 | G | GTCTCACT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(161): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0078 others(161): Show |
164 | 288 | 0.5694 | 20 | c.889 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123797606 | G | GTCTCACT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01515.hp1 others(24): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0126 a0001c0001t0001g0247 a0001c0001t0002g0036 others(24): Show |
27 | 288 | 0.0938 | 20 | c.889 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123830872 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0010a0001c0003t0002a0001c0005t0001others(1): Show | a0001c0001t0010g0039 a0001c0003t0002g0072 a0001c0005t0001g0038 others(3): Show |
6 | 288 | 0.0208 | 20 | c.653 others(39): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0196 | 1 | 288 | 0.0035 | 20 | c.305 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123881232 | T | TCTTCCCT others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18962.hp1 NA18990.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0003t0001a0001c0013t0001 | a0001c0001t0001g0200 a0001c0003t0001g0076 a0001c0003t0001g0199 others(1): Show |
4 | 288 | 0.0139 | 20 | c.305 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8605322 | T | TCATCCAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01070.hp2 HG01071.hp1 others(19): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0001a0001c0007t0003a0001c0009t0002others(8): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(16): Show |
22 | 442 | 0.0498 | 20 | c.710 others(35): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605322 | T | TCATCCAT others(13): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03654.hp2 HG03942.hp2 |
a0014a0026 | a0014c0026a0026c0052 | a0014c0026t0002a0026c0052t0002 | a0014c0026t0002g0059 a0026c0052t0002g0221 |
3 | 442 | 0.0068 | 20 | c.710 others(35): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8608641 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(409): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0006a0001c0007others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(76): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(290): Show |
412 | 442 | 0.9321 | 20 | c.122 others(39): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8608641 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0077 | a0002c0077t0001 | a0002c0077t0001g0240 | 1 | 442 | 0.0023 | 20 | c.122 others(39): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CP_chr3_149167497_149226829 | 149172318 | T | TCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0334 | 1 | 376 | 0.0027 | 20 | c.*13 others(31): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 178 | chr3 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149175664 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02735.hp1 HG03579.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0003a0004c0013t0002 | a0001c0001t0003g0253 a0004c0013t0002g0012 |
3 | 376 | 0.0080 | 20 | c.318 others(37): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207643914 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(1): Show |
a0002a0018 | a0002c0002a0018c0022 | a0002c0002t0001a0018c0022t0001 | a0002c0002t0001g0003 a0002c0002t0001g0264 a0018c0022t0001g0265 |
4 | 346 | 0.0116 | 20 | c.-13 others(31): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1218 | chr1 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207683010 | T | TTCTTTTT others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0257 | 1 | 346 | 0.0029 | 20 | c.378 others(35): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207707785 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0033 | 1 | 346 | 0.0029 | 20 | c.132 others(37): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207510724 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02622.hp2 others(9): Show |
a0002a0007a0014 | a0002c0010a0002c0027a0007c0012others(1): Show | a0002c0010t0002a0002c0010t0005a0002c0027t0002others(3): Show | a0002c0010t0002g0135 a0002c0010t0002g0136 a0002c0010t0002g0137 others(9): Show |
12 | 360 | 0.0333 | 20 | c.402 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207510724 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01081.hp1 others(31): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0020a0002c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0246 a0001c0001t0001g0318 a0001c0001t0002g0022 others(31): Show |
34 | 360 | 0.0944 | 20 | c.402 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207513762 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0254 | 1 | 360 | 0.0028 | 20 | c.487 others(37): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207513762 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0022 | a0022c0066 | a0022c0066t0002 | a0022c0066t0002g0231 | 1 | 360 | 0.0028 | 20 | c.487 others(37): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617483 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA19012.hp1 NA19043.hp1 |
a0004a0014 | a0004c0005a0014c0058 | a0004c0005t0002a0014c0058t0002 | a0004c0005t0002g0330 a0014c0058t0002g0034 |
2 | 360 | 0.0056 | 20 | c.689 others(37): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03225.hp1 others(1): Show |
a0002a0005 | a0002c0011a0005c0004 | a0002c0011t0006a0005c0004t0001 | a0002c0011t0006g0074 a0002c0011t0006g0075 a0002c0011t0006g0077 others(1): Show |
4 | 360 | 0.0111 | 20 | c.689 others(37): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03942.hp2 NA21309.hp2 |
a0002a0003a0027 | a0002c0011a0003c0002a0027c0077 | a0002c0011t0001a0003c0002t0001a0027c0077t0001 | a0002c0011t0001g0078 a0003c0002t0001g0282 a0027c0077t0001g0300 |
3 | 360 | 0.0083 | 20 | c.689 others(37): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207643914 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02723.hp2 others(1): Show |
a0002a0026 | a0002c0010a0026c0038 | a0002c0010t0002a0026c0038t0016 | a0002c0010t0002g0136 a0002c0010t0002g0137 a0002c0010t0002g0138 others(1): Show |
4 | 360 | 0.0111 | 20 | c.*45 others(31): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 2150 | chr1 | TogoVar | |||||||
CR2_chr1_207449328_207494892 | 207458059 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0001 | a0001c0001t0006g0070 a0002c0004t0001g0224 |
2 | 378 | 0.0053 | 20 | c.58+ others(35): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR2_chr1_207449328_207494892 | 207486230 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18988.hp1 NA19055.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 a0001c0003t0001g0197 |
3 | 378 | 0.0079 | 20 | c.*18 others(35): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATATTTTT others(13): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 |
2 | 316 | 0.0063 | 20 | c.275 others(37): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar |